共 7 条
[1]
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study
[J].
Cavalleri, Gianpiero L.
;
Weale, Michael E.
;
Shianna, Kevin V.
;
Singh, Rinki
;
Lynch, John M.
;
Grinton, Bronwyn
;
Szoeke, Cassandra
;
Murphy, Kevin
;
Kinirons, Peter
;
O'Rourke, Deirdre
;
Ge, Dongliang
;
Depondt, Chantal
;
Claeys, Kristl G.
;
Pandolfo, Massimo
;
Gumbs, Curtis
;
Walley, Nicole
;
McNamara, James
;
Mulley, John C.
;
Linney, Kristen N.
;
Sheffield, Leslie J.
;
Radtke, Rodney A.
;
Tate, Sarah K.
;
Chissoe, Stephanie L.
;
Gibson, Rachel A.
;
Hosford, David
;
Stanton, Alice
;
Graves, Tracey D.
;
Hanna, Michael G.
;
Eriksson, Kai
;
Kantanen, Anne-Mari
;
Kalviainen, Reetta
;
O'Brien, Terence J.
;
Sander, Josemir W.
;
Duncan, John S.
;
Scheffer, Ingrid E.
;
Berkovic, Samuel F.
;
Wood, Nicholas W.
;
Doherty, Colin P.
;
Delanty, Norman
;
Sisodiya, Sanjay M.
;
Goldstein, David B.
.
LANCET NEUROLOGY,
2007, 6 (11)
:970-980

Cavalleri, Gianpiero L.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Weale, Michael E.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Shianna, Kevin V.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Singh, Rinki
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Lynch, John M.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Grinton, Bronwyn
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Szoeke, Cassandra
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Murphy, Kevin
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Kinirons, Peter
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

O'Rourke, Deirdre
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Ge, Dongliang
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Depondt, Chantal
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Claeys, Kristl G.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Pandolfo, Massimo
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Gumbs, Curtis
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Walley, Nicole
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

McNamara, James
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Mulley, John C.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Linney, Kristen N.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Sheffield, Leslie J.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Radtke, Rodney A.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Tate, Sarah K.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Chissoe, Stephanie L.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Gibson, Rachel A.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Hosford, David
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Stanton, Alice
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Graves, Tracey D.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Hanna, Michael G.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Eriksson, Kai
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Kantanen, Anne-Mari
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Kalviainen, Reetta
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

O'Brien, Terence J.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Sander, Josemir W.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Duncan, John S.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Scheffer, Ingrid E.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Berkovic, Samuel F.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Wood, Nicholas W.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Doherty, Colin P.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Delanty, Norman
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Sisodiya, Sanjay M.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

Goldstein, David B.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England
[2]
Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A
[J].
Heinzen, Erin L.
;
Yoon, Woohyun
;
Tate, Sarah K.
;
Sen, Arjune
;
Wood, Nicholas W.
;
Sisodiya, Sanjay M.
;
Goldstein, David B.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2007, 80 (05)
:876-883

Heinzen, Erin L.
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genome Sci & Policy, Ctr Populat Genom & Pharmacogenet, Durham, NC 27710 USA

Yoon, Woohyun
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genome Sci & Policy, Ctr Populat Genom & Pharmacogenet, Durham, NC 27710 USA

Tate, Sarah K.
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genome Sci & Policy, Ctr Populat Genom & Pharmacogenet, Durham, NC 27710 USA

Sen, Arjune
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genome Sci & Policy, Ctr Populat Genom & Pharmacogenet, Durham, NC 27710 USA

Wood, Nicholas W.
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genome Sci & Policy, Ctr Populat Genom & Pharmacogenet, Durham, NC 27710 USA

Sisodiya, Sanjay M.
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genome Sci & Policy, Ctr Populat Genom & Pharmacogenet, Durham, NC 27710 USA

Goldstein, David B.
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Inst Genome Sci & Policy, Ctr Populat Genom & Pharmacogenet, Durham, NC 27710 USA
[3]
Navigating the channels and beyond: unravelling the genetics of the epilepsies
[J].
Helbig, Ingo
;
Scheffer, Ingrid E.
;
Mulley, John C.
;
Berkovic, Samuel F.
.
LANCET NEUROLOGY,
2008, 7 (03)
:231-245

Helbig, Ingo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Epilepsy Res Ctr, Parkville, Vic 3052, Australia Univ Melbourne, Dept Med, Epilepsy Res Ctr, Parkville, Vic 3052, Australia

Scheffer, Ingrid E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Epilepsy Res Ctr, Parkville, Vic 3052, Australia
Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia Univ Melbourne, Dept Med, Epilepsy Res Ctr, Parkville, Vic 3052, Australia

Mulley, John C.
论文数: 0 引用数: 0
h-index: 0
机构:
Womens & Childrens Hosp, Dept Genet Med, Adelaide, SA, Australia Univ Melbourne, Dept Med, Epilepsy Res Ctr, Parkville, Vic 3052, Australia

Berkovic, Samuel F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Epilepsy Res Ctr, Parkville, Vic 3052, Australia Univ Melbourne, Dept Med, Epilepsy Res Ctr, Parkville, Vic 3052, Australia
[4]
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures
[J].
Mantegazza, M
;
Gambardella, A
;
Rusconi, R
;
Schiavon, E
;
Annesi, F
;
Cassulini, RR
;
Labate, A
;
Carrideo, S
;
Chifari, R
;
Canevini, MP
;
Canger, R
;
Franceschetti, S
;
Annesi, G
;
Wanke, E
;
Quattrone, A
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
2005, 102 (50)
:18177-18182

Mantegazza, M
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

Gambardella, A
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

Rusconi, R
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

论文数: 引用数:
h-index:
机构:

Annesi, F
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

Cassulini, RR
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

Labate, A
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

Carrideo, S
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

Chifari, R
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

Canevini, MP
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

Canger, R
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

Franceschetti, S
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

Annesi, G
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

Wanke, E
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy

Quattrone, A
论文数: 0 引用数: 0
h-index: 0
机构: Ist Neurol C Besta, Dept Neurophysiopathol, I-20126 Milan, Italy
[5]
Association of genetic loci - Replication or not, that is the question
[J].
Ott, J
.
NEUROLOGY,
2004, 63 (06)
:955-958

Ott, J
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Lab Stat Genet, New York, NY 10021 USA Rockefeller Univ, Lab Stat Genet, New York, NY 10021 USA
[6]
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
[J].
Scheffer, Ingrid E.
;
Zhang, Yue-Hua
;
Jansen, Floor E.
;
Dibbens, Leanne
.
BRAIN & DEVELOPMENT,
2009, 31 (05)
:394-400

Scheffer, Ingrid E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Heidelberg, Vic 3081, Australia
Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia Univ Melbourne, Dept Med, Heidelberg, Vic 3081, Australia

Zhang, Yue-Hua
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ, Hosp 1, Dept Paediat, Beijing 100871, Peoples R China Univ Melbourne, Dept Med, Heidelberg, Vic 3081, Australia

Jansen, Floor E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr, Rudolf Magnus Inst Neurosci, Dept Paediat Neurol, Utrecht, Netherlands Univ Melbourne, Dept Med, Heidelberg, Vic 3081, Australia

Dibbens, Leanne
论文数: 0 引用数: 0
h-index: 0
机构:
Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA, Australia
Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA 5005, Australia Univ Melbourne, Dept Med, Heidelberg, Vic 3081, Australia
[7]
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures
[J].
Schlachter, K.
;
Gruber-Sedlmayr, U.
;
Stogmann, E.
;
Lausecker, M.
;
Hotzy, C.
;
Balzar, J.
;
Schuh, E.
;
Baumgartner, C.
;
Mueller, J. C.
;
Illig, T.
;
Wichmann, H. E.
;
Lichtner, P.
;
Meitinger, T.
;
Strom, T. M.
;
Zimprich, A.
;
Zimprich, F.
.
NEUROLOGY,
2009, 72 (11)
:974-978

Schlachter, K.
论文数: 0 引用数: 0
h-index: 0
机构:
LKII Bregenz, Dept Pediat, Bregenz, Austria LKII Bregenz, Dept Pediat, Bregenz, Austria

Gruber-Sedlmayr, U.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Graz, Dept Pediat, Graz, Austria LKII Bregenz, Dept Pediat, Bregenz, Austria

Stogmann, E.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Clin Neurol, Vienna, Austria LKII Bregenz, Dept Pediat, Bregenz, Austria

Lausecker, M.
论文数: 0 引用数: 0
h-index: 0
机构:
GV Preyersches Kinderspital, Vienna, Austria LKII Bregenz, Dept Pediat, Bregenz, Austria

Hotzy, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Clin Neurol, Vienna, Austria LKII Bregenz, Dept Pediat, Bregenz, Austria

Balzar, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Clin Neurol, Vienna, Austria LKII Bregenz, Dept Pediat, Bregenz, Austria

Schuh, E.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Clin Neurol, Vienna, Austria LKII Bregenz, Dept Pediat, Bregenz, Austria

Baumgartner, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Gen Hosp Hietzing, Neurol Ctr Rosenhuegel, Dept Neurol 2, Vienna, Austria LKII Bregenz, Dept Pediat, Bregenz, Austria

Mueller, J. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Max Planck Inst Ornithol, Dept Behav Ecol & Evolutionary Genet, Seewiesen, Germany LKII Bregenz, Dept Pediat, Bregenz, Austria

Illig, T.
论文数: 0 引用数: 0
h-index: 0
机构:
German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Epidemiol, Neuherberg, Germany LKII Bregenz, Dept Pediat, Bregenz, Austria

Wichmann, H. E.
论文数: 0 引用数: 0
h-index: 0
机构:
German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Epidemiol, Neuherberg, Germany LKII Bregenz, Dept Pediat, Bregenz, Austria

Lichtner, P.
论文数: 0 引用数: 0
h-index: 0
机构:
German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany LKII Bregenz, Dept Pediat, Bregenz, Austria

Meitinger, T.
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, Munich, Germany
German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany LKII Bregenz, Dept Pediat, Bregenz, Austria

Strom, T. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, Munich, Germany
German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany LKII Bregenz, Dept Pediat, Bregenz, Austria

Zimprich, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Clin Neurol, Vienna, Austria LKII Bregenz, Dept Pediat, Bregenz, Austria

Zimprich, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Clin Neurol, Vienna, Austria LKII Bregenz, Dept Pediat, Bregenz, Austria